L19P (p.Leu19Pro) variant of CYP21A2 (Steroid 21-hydroxylase)
L19P (p.Leu19Pro) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- gnomAD 6-32038478-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- CADD 24.40
- PolyPhen-2 0.96
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available